Canonical Allele Identifier: CA044805
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 451858
ClinVar RCV Id: RCV000522797 RCV002341228 RCV004003633
dbSNP Id: rs753907340
ExAC: 14:23884978 T / C
gnomAD v2: 14-23884978-T-C
gnomAD v4: 14-23415769-T-C
MyVariant Identifiers: chr14:g.23884978T>C (hg19) chr14:g.23415769T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415769T>C , CM000676.2:g.23415769T>C GRCh38
NC_000014.8:g.23884978T>C , CM000676.1:g.23884978T>C GRCh37
NC_000014.7:g.22954818T>C NCBI36
NG_007884.1:g.24893A>G , LRG_384:g.24893A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5017A>G (MYH7) MANE Select ENSP00000347507.3:p.Ile1673Val
ENST00000355349.3:c.5017A>G (MYH7) ENSP00000347507.3:p.Ile1673Val
NM_000257.3:c.5017A>G (MYH7) NP_000248.2:p.Ile1673Val
NR_126491.1:n.201T>C (MHRT)
XM_017021340.1:c.5017A>G (MYH7) XP_016876829.1:p.Ile1673Val
NM_000257.4:c.5017A>G (MYH7) MANE Select NP_000248.2:p.Ile1673Val
Search 100 bp 5'
Search 100 bp 3'